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Items: 1 to 20 of 180

1.

rs1483914969 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    15:80121798 (GRCh38)
    15:80414140 (GRCh37)
    Canonical SPDI:
    NC_000015.10:80121797:A:G
    Gene:
    ZFAND6 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000015.10:g.80121798A>G, NC_000015.9:g.80414140A>G, NM_019006.4:c.241A>G, NM_019006.3:c.241A>G, XM_011521684.3:c.241A>G, XM_011521684.2:c.241A>G, XM_011521684.1:c.241A>G, NM_001242914.2:c.241A>G, NM_001242914.1:c.241A>G, NM_001242913.2:c.241A>G, NM_001242913.1:c.241A>G, XM_024449959.2:c.241A>G, XM_024449959.1:c.241A>G, NM_001242916.2:c.241A>G, NM_001242916.1:c.241A>G, NM_001242912.2:c.241A>G, NM_001242912.1:c.241A>G, XM_024449956.2:c.241A>G, XM_024449956.1:c.241A>G, NM_001242917.2:c.205A>G, NM_001242917.1:c.205A>G, NM_001242911.2:c.241A>G, NM_001242911.1:c.241A>G, NM_001242915.2:c.241A>G, NM_001242915.1:c.241A>G, XM_024449963.2:c.241A>G, XM_024449963.1:c.241A>G, NM_001242918.2:c.241A>G, NM_001242918.1:c.241A>G, XM_047432695.1:c.241A>G, XM_047432696.1:c.241A>G, XM_047432697.1:c.241A>G, NM_001242919.1:c.241A>G, XM_047432694.1:c.241A>G, NP_061879.2:p.Thr81Ala, XP_011519986.1:p.Thr81Ala, NP_001229843.1:p.Thr81Ala, NP_001229842.1:p.Thr81Ala, XP_024305727.1:p.Thr81Ala, NP_001229845.1:p.Thr81Ala, NP_001229841.1:p.Thr81Ala, XP_024305724.1:p.Thr81Ala, NP_001229846.1:p.Thr69Ala, NP_001229840.1:p.Thr81Ala, NP_001229844.1:p.Thr81Ala, XP_024305731.1:p.Thr81Ala, NP_001229847.1:p.Thr81Ala, XP_047288651.1:p.Thr81Ala, XP_047288652.1:p.Thr81Ala, XP_047288653.1:p.Thr81Ala, NP_001229848.1:p.Thr81Ala, XP_047288650.1:p.Thr81Ala

    2.

    rs1483489309 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      15:80131249 (GRCh38)
      15:80423591 (GRCh37)
      Canonical SPDI:
      NC_000015.10:80131248:A:C
      Gene:
      ZFAND6 (Varview)
      Functional Consequence:
      missense_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.80131249A>C, NC_000015.9:g.80423591A>C, NM_019006.4:c.434A>C, NM_019006.3:c.434A>C, XM_011521684.3:c.434A>C, XM_011521684.2:c.434A>C, XM_011521684.1:c.434A>C, NM_001242914.2:c.434A>C, NM_001242914.1:c.434A>C, NM_001242913.2:c.434A>C, NM_001242913.1:c.434A>C, XM_024449959.2:c.434A>C, XM_024449959.1:c.434A>C, NM_001242916.2:c.434A>C, NM_001242916.1:c.434A>C, NM_001242912.2:c.434A>C, NM_001242912.1:c.434A>C, XM_024449956.2:c.434A>C, XM_024449956.1:c.434A>C, NM_001242917.2:c.398A>C, NM_001242917.1:c.398A>C, NM_001242911.2:c.434A>C, NM_001242911.1:c.434A>C, NM_001242915.2:c.434A>C, NM_001242915.1:c.434A>C, XM_024449963.2:c.434A>C, XM_024449963.1:c.434A>C, XM_047432695.1:c.434A>C, XM_047432696.1:c.434A>C, XM_047432697.1:c.434A>C, NM_001242919.1:c.353A>C, XM_047432694.1:c.434A>C, NP_061879.2:p.Lys145Thr, XP_011519986.1:p.Lys145Thr, NP_001229843.1:p.Lys145Thr, NP_001229842.1:p.Lys145Thr, XP_024305727.1:p.Lys145Thr, NP_001229845.1:p.Lys145Thr, NP_001229841.1:p.Lys145Thr, XP_024305724.1:p.Lys145Thr, NP_001229846.1:p.Lys133Thr, NP_001229840.1:p.Lys145Thr, NP_001229844.1:p.Lys145Thr, XP_024305731.1:p.Lys145Thr, XP_047288651.1:p.Lys145Thr, XP_047288652.1:p.Lys145Thr, XP_047288653.1:p.Lys145Thr, NP_001229848.1:p.Lys118Thr, XP_047288650.1:p.Lys145Thr

      3.

      rs1482833666 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        15:80120369 (GRCh38)
        15:80412711 (GRCh37)
        Canonical SPDI:
        NC_000015.10:80120368:C:A
        Gene:
        ZFAND6 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000015.10:g.80120369C>A, NC_000015.9:g.80412711C>A, NM_019006.4:c.25C>A, NM_019006.3:c.25C>A, XM_011521684.3:c.25C>A, XM_011521684.2:c.25C>A, XM_011521684.1:c.25C>A, NM_001242914.2:c.25C>A, NM_001242914.1:c.25C>A, NM_001242913.2:c.25C>A, NM_001242913.1:c.25C>A, XM_024449959.2:c.25C>A, XM_024449959.1:c.25C>A, NM_001242916.2:c.25C>A, NM_001242916.1:c.25C>A, NM_001242912.2:c.25C>A, NM_001242912.1:c.25C>A, XM_024449956.2:c.25C>A, XM_024449956.1:c.25C>A, NM_001242917.2:c.25C>A, NM_001242917.1:c.25C>A, NM_001242911.2:c.25C>A, NM_001242911.1:c.25C>A, NM_001242915.2:c.25C>A, NM_001242915.1:c.25C>A, XM_024449963.2:c.25C>A, XM_024449963.1:c.25C>A, NM_001242918.2:c.25C>A, NM_001242918.1:c.25C>A, XM_047432695.1:c.25C>A, XM_047432696.1:c.25C>A, XM_047432697.1:c.25C>A, NM_001242919.1:c.25C>A, XM_047432694.1:c.25C>A, NP_061879.2:p.Gln9Lys, XP_011519986.1:p.Gln9Lys, NP_001229843.1:p.Gln9Lys, NP_001229842.1:p.Gln9Lys, XP_024305727.1:p.Gln9Lys, NP_001229845.1:p.Gln9Lys, NP_001229841.1:p.Gln9Lys, XP_024305724.1:p.Gln9Lys, NP_001229846.1:p.Gln9Lys, NP_001229840.1:p.Gln9Lys, NP_001229844.1:p.Gln9Lys, XP_024305731.1:p.Gln9Lys, NP_001229847.1:p.Gln9Lys, XP_047288651.1:p.Gln9Lys, XP_047288652.1:p.Gln9Lys, XP_047288653.1:p.Gln9Lys, NP_001229848.1:p.Gln9Lys, XP_047288650.1:p.Gln9Lys

        4.

        rs1472042499 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          15:80131267 (GRCh38)
          15:80423609 (GRCh37)
          Canonical SPDI:
          NC_000015.10:80131266:T:C
          Gene:
          ZFAND6 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.80131267T>C, NC_000015.9:g.80423609T>C, NM_019006.4:c.452T>C, NM_019006.3:c.452T>C, XM_011521684.3:c.452T>C, XM_011521684.2:c.452T>C, XM_011521684.1:c.452T>C, NM_001242914.2:c.452T>C, NM_001242914.1:c.452T>C, NM_001242913.2:c.452T>C, NM_001242913.1:c.452T>C, XM_024449959.2:c.452T>C, XM_024449959.1:c.452T>C, NM_001242916.2:c.452T>C, NM_001242916.1:c.452T>C, NM_001242912.2:c.452T>C, NM_001242912.1:c.452T>C, XM_024449956.2:c.452T>C, XM_024449956.1:c.452T>C, NM_001242917.2:c.416T>C, NM_001242917.1:c.416T>C, NM_001242911.2:c.452T>C, NM_001242911.1:c.452T>C, NM_001242915.2:c.452T>C, NM_001242915.1:c.452T>C, XM_024449963.2:c.452T>C, XM_024449963.1:c.452T>C, XM_047432695.1:c.452T>C, XM_047432696.1:c.452T>C, XM_047432697.1:c.452T>C, NM_001242919.1:c.371T>C, XM_047432694.1:c.452T>C, NP_061879.2:p.Met151Thr, XP_011519986.1:p.Met151Thr, NP_001229843.1:p.Met151Thr, NP_001229842.1:p.Met151Thr, XP_024305727.1:p.Met151Thr, NP_001229845.1:p.Met151Thr, NP_001229841.1:p.Met151Thr, XP_024305724.1:p.Met151Thr, NP_001229846.1:p.Met139Thr, NP_001229840.1:p.Met151Thr, NP_001229844.1:p.Met151Thr, XP_024305731.1:p.Met151Thr, XP_047288651.1:p.Met151Thr, XP_047288652.1:p.Met151Thr, XP_047288653.1:p.Met151Thr, NP_001229848.1:p.Met124Thr, XP_047288650.1:p.Met151Thr

          5.

          rs1471559650 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            15:80137597 (GRCh38)
            15:80429939 (GRCh37)
            Canonical SPDI:
            NC_000015.10:80137596:T:C
            Gene:
            ZFAND6 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.80137597T>C, NC_000015.9:g.80429939T>C, NM_019006.4:c.596T>C, NM_019006.3:c.596T>C, XM_011521684.3:c.596T>C, XM_011521684.2:c.596T>C, XM_011521684.1:c.596T>C, NM_001242914.2:c.596T>C, NM_001242914.1:c.596T>C, NM_001242913.2:c.596T>C, NM_001242913.1:c.596T>C, XM_024449959.2:c.596T>C, XM_024449959.1:c.596T>C, NM_001242916.2:c.596T>C, NM_001242916.1:c.596T>C, NM_001242912.2:c.596T>C, NM_001242912.1:c.596T>C, XM_024449956.2:c.596T>C, XM_024449956.1:c.596T>C, NM_001242917.2:c.560T>C, NM_001242917.1:c.560T>C, NM_001242911.2:c.596T>C, NM_001242911.1:c.596T>C, NM_001242915.2:c.596T>C, NM_001242915.1:c.596T>C, XM_024449963.2:c.596T>C, XM_024449963.1:c.596T>C, NM_001242918.2:c.482T>C, NM_001242918.1:c.482T>C, XM_047432695.1:c.596T>C, XM_047432696.1:c.596T>C, XM_047432697.1:c.596T>C, NM_001242919.1:c.515T>C, XM_047432694.1:c.596T>C, NP_061879.2:p.Val199Ala, XP_011519986.1:p.Val199Ala, NP_001229843.1:p.Val199Ala, NP_001229842.1:p.Val199Ala, XP_024305727.1:p.Val199Ala, NP_001229845.1:p.Val199Ala, NP_001229841.1:p.Val199Ala, XP_024305724.1:p.Val199Ala, NP_001229846.1:p.Val187Ala, NP_001229840.1:p.Val199Ala, NP_001229844.1:p.Val199Ala, XP_024305731.1:p.Val199Ala, NP_001229847.1:p.Val161Ala, XP_047288651.1:p.Val199Ala, XP_047288652.1:p.Val199Ala, XP_047288653.1:p.Val199Ala, NP_001229848.1:p.Val172Ala, XP_047288650.1:p.Val199Ala

            6.

            rs1466616945 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:80120483 (GRCh38)
              15:80412825 (GRCh37)
              Canonical SPDI:
              NC_000015.10:80120482:A:G
              Gene:
              ZFAND6 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.80120483A>G, NC_000015.9:g.80412825A>G, NM_019006.4:c.139A>G, NM_019006.3:c.139A>G, XM_011521684.3:c.139A>G, XM_011521684.2:c.139A>G, XM_011521684.1:c.139A>G, NM_001242914.2:c.139A>G, NM_001242914.1:c.139A>G, NM_001242913.2:c.139A>G, NM_001242913.1:c.139A>G, XM_024449959.2:c.139A>G, XM_024449959.1:c.139A>G, NM_001242916.2:c.139A>G, NM_001242916.1:c.139A>G, NM_001242912.2:c.139A>G, NM_001242912.1:c.139A>G, XM_024449956.2:c.139A>G, XM_024449956.1:c.139A>G, NM_001242917.2:c.139A>G, NM_001242917.1:c.139A>G, NM_001242911.2:c.139A>G, NM_001242911.1:c.139A>G, NM_001242915.2:c.139A>G, NM_001242915.1:c.139A>G, XM_024449963.2:c.139A>G, XM_024449963.1:c.139A>G, NM_001242918.2:c.139A>G, NM_001242918.1:c.139A>G, XM_047432695.1:c.139A>G, XM_047432696.1:c.139A>G, XM_047432697.1:c.139A>G, NM_001242919.1:c.139A>G, XM_047432694.1:c.139A>G, NP_061879.2:p.Arg47Gly, XP_011519986.1:p.Arg47Gly, NP_001229843.1:p.Arg47Gly, NP_001229842.1:p.Arg47Gly, XP_024305727.1:p.Arg47Gly, NP_001229845.1:p.Arg47Gly, NP_001229841.1:p.Arg47Gly, XP_024305724.1:p.Arg47Gly, NP_001229846.1:p.Arg47Gly, NP_001229840.1:p.Arg47Gly, NP_001229844.1:p.Arg47Gly, XP_024305731.1:p.Arg47Gly, NP_001229847.1:p.Arg47Gly, XP_047288651.1:p.Arg47Gly, XP_047288652.1:p.Arg47Gly, XP_047288653.1:p.Arg47Gly, NP_001229848.1:p.Arg47Gly, XP_047288650.1:p.Arg47Gly

              7.

              rs1464997873 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                15:80131195 (GRCh38)
                15:80423537 (GRCh37)
                Canonical SPDI:
                NC_000015.10:80131194:C:G
                Gene:
                ZFAND6 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000028/1 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000015.10:g.80131195C>G, NC_000015.9:g.80423537C>G, NM_019006.4:c.380C>G, NM_019006.3:c.380C>G, XM_011521684.3:c.380C>G, XM_011521684.2:c.380C>G, XM_011521684.1:c.380C>G, NM_001242914.2:c.380C>G, NM_001242914.1:c.380C>G, NM_001242913.2:c.380C>G, NM_001242913.1:c.380C>G, XM_024449959.2:c.380C>G, XM_024449959.1:c.380C>G, NM_001242916.2:c.380C>G, NM_001242916.1:c.380C>G, NM_001242912.2:c.380C>G, NM_001242912.1:c.380C>G, XM_024449956.2:c.380C>G, XM_024449956.1:c.380C>G, NM_001242917.2:c.344C>G, NM_001242917.1:c.344C>G, NM_001242911.2:c.380C>G, NM_001242911.1:c.380C>G, NM_001242915.2:c.380C>G, NM_001242915.1:c.380C>G, XM_024449963.2:c.380C>G, XM_024449963.1:c.380C>G, XM_047432695.1:c.380C>G, XM_047432696.1:c.380C>G, XM_047432697.1:c.380C>G, NM_001242919.1:c.299C>G, XM_047432694.1:c.380C>G, NP_061879.2:p.Thr127Arg, XP_011519986.1:p.Thr127Arg, NP_001229843.1:p.Thr127Arg, NP_001229842.1:p.Thr127Arg, XP_024305727.1:p.Thr127Arg, NP_001229845.1:p.Thr127Arg, NP_001229841.1:p.Thr127Arg, XP_024305724.1:p.Thr127Arg, NP_001229846.1:p.Thr115Arg, NP_001229840.1:p.Thr127Arg, NP_001229844.1:p.Thr127Arg, XP_024305731.1:p.Thr127Arg, XP_047288651.1:p.Thr127Arg, XP_047288652.1:p.Thr127Arg, XP_047288653.1:p.Thr127Arg, NP_001229848.1:p.Thr100Arg, XP_047288650.1:p.Thr127Arg

                8.

                rs1462248520 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  15:80121741 (GRCh38)
                  15:80414083 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:80121740:T:C
                  Gene:
                  ZFAND6 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000047/1 (ALFA)
                  C=0.000008/2 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1459515422 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    15:80137521 (GRCh38)
                    15:80429863 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:80137520:C:T
                    Gene:
                    ZFAND6 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000015.10:g.80137521C>T, NC_000015.9:g.80429863C>T, NM_019006.4:c.520C>T, NM_019006.3:c.520C>T, XM_011521684.3:c.520C>T, XM_011521684.2:c.520C>T, XM_011521684.1:c.520C>T, NM_001242914.2:c.520C>T, NM_001242914.1:c.520C>T, NM_001242913.2:c.520C>T, NM_001242913.1:c.520C>T, XM_024449959.2:c.520C>T, XM_024449959.1:c.520C>T, NM_001242916.2:c.520C>T, NM_001242916.1:c.520C>T, NM_001242912.2:c.520C>T, NM_001242912.1:c.520C>T, XM_024449956.2:c.520C>T, XM_024449956.1:c.520C>T, NM_001242917.2:c.484C>T, NM_001242917.1:c.484C>T, NM_001242911.2:c.520C>T, NM_001242911.1:c.520C>T, NM_001242915.2:c.520C>T, NM_001242915.1:c.520C>T, XM_024449963.2:c.520C>T, XM_024449963.1:c.520C>T, NM_001242918.2:c.406C>T, NM_001242918.1:c.406C>T, XM_047432695.1:c.520C>T, XM_047432696.1:c.520C>T, XM_047432697.1:c.520C>T, NM_001242919.1:c.439C>T, XM_047432694.1:c.520C>T, NP_061879.2:p.Arg174Cys, XP_011519986.1:p.Arg174Cys, NP_001229843.1:p.Arg174Cys, NP_001229842.1:p.Arg174Cys, XP_024305727.1:p.Arg174Cys, NP_001229845.1:p.Arg174Cys, NP_001229841.1:p.Arg174Cys, XP_024305724.1:p.Arg174Cys, NP_001229846.1:p.Arg162Cys, NP_001229840.1:p.Arg174Cys, NP_001229844.1:p.Arg174Cys, XP_024305731.1:p.Arg174Cys, NP_001229847.1:p.Arg136Cys, XP_047288651.1:p.Arg174Cys, XP_047288652.1:p.Arg174Cys, XP_047288653.1:p.Arg174Cys, NP_001229848.1:p.Arg147Cys, XP_047288650.1:p.Arg174Cys

                    10.

                    rs1454429113 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      15:80131227 (GRCh38)
                      15:80423569 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:80131226:T:C
                      Gene:
                      ZFAND6 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000015.10:g.80131227T>C, NC_000015.9:g.80423569T>C, NM_019006.4:c.412T>C, NM_019006.3:c.412T>C, XM_011521684.3:c.412T>C, XM_011521684.2:c.412T>C, XM_011521684.1:c.412T>C, NM_001242914.2:c.412T>C, NM_001242914.1:c.412T>C, NM_001242913.2:c.412T>C, NM_001242913.1:c.412T>C, XM_024449959.2:c.412T>C, XM_024449959.1:c.412T>C, NM_001242916.2:c.412T>C, NM_001242916.1:c.412T>C, NM_001242912.2:c.412T>C, NM_001242912.1:c.412T>C, XM_024449956.2:c.412T>C, XM_024449956.1:c.412T>C, NM_001242917.2:c.376T>C, NM_001242917.1:c.376T>C, NM_001242911.2:c.412T>C, NM_001242911.1:c.412T>C, NM_001242915.2:c.412T>C, NM_001242915.1:c.412T>C, XM_024449963.2:c.412T>C, XM_024449963.1:c.412T>C, XM_047432695.1:c.412T>C, XM_047432696.1:c.412T>C, XM_047432697.1:c.412T>C, NM_001242919.1:c.331T>C, XM_047432694.1:c.412T>C, NP_061879.2:p.Ser138Pro, XP_011519986.1:p.Ser138Pro, NP_001229843.1:p.Ser138Pro, NP_001229842.1:p.Ser138Pro, XP_024305727.1:p.Ser138Pro, NP_001229845.1:p.Ser138Pro, NP_001229841.1:p.Ser138Pro, XP_024305724.1:p.Ser138Pro, NP_001229846.1:p.Ser126Pro, NP_001229840.1:p.Ser138Pro, NP_001229844.1:p.Ser138Pro, XP_024305731.1:p.Ser138Pro, XP_047288651.1:p.Ser138Pro, XP_047288652.1:p.Ser138Pro, XP_047288653.1:p.Ser138Pro, NP_001229848.1:p.Ser111Pro, XP_047288650.1:p.Ser138Pro

                      11.

                      rs1451738592 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        15:80120398 (GRCh38)
                        15:80412740 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:80120397:T:G
                        Gene:
                        ZFAND6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.0033/6 (Korea1K)
                        HGVS:
                        NC_000015.10:g.80120398T>G, NC_000015.9:g.80412740T>G, NM_019006.4:c.54T>G, NM_019006.3:c.54T>G, XM_011521684.3:c.54T>G, XM_011521684.2:c.54T>G, XM_011521684.1:c.54T>G, NM_001242914.2:c.54T>G, NM_001242914.1:c.54T>G, NM_001242913.2:c.54T>G, NM_001242913.1:c.54T>G, XM_024449959.2:c.54T>G, XM_024449959.1:c.54T>G, NM_001242916.2:c.54T>G, NM_001242916.1:c.54T>G, NM_001242912.2:c.54T>G, NM_001242912.1:c.54T>G, XM_024449956.2:c.54T>G, XM_024449956.1:c.54T>G, NM_001242917.2:c.54T>G, NM_001242917.1:c.54T>G, NM_001242911.2:c.54T>G, NM_001242911.1:c.54T>G, NM_001242915.2:c.54T>G, NM_001242915.1:c.54T>G, XM_024449963.2:c.54T>G, XM_024449963.1:c.54T>G, NM_001242918.2:c.54T>G, NM_001242918.1:c.54T>G, XM_047432695.1:c.54T>G, XM_047432696.1:c.54T>G, XM_047432697.1:c.54T>G, NM_001242919.1:c.54T>G, XM_047432694.1:c.54T>G, NP_061879.2:p.Cys18Trp, XP_011519986.1:p.Cys18Trp, NP_001229843.1:p.Cys18Trp, NP_001229842.1:p.Cys18Trp, XP_024305727.1:p.Cys18Trp, NP_001229845.1:p.Cys18Trp, NP_001229841.1:p.Cys18Trp, XP_024305724.1:p.Cys18Trp, NP_001229846.1:p.Cys18Trp, NP_001229840.1:p.Cys18Trp, NP_001229844.1:p.Cys18Trp, XP_024305731.1:p.Cys18Trp, NP_001229847.1:p.Cys18Trp, XP_047288651.1:p.Cys18Trp, XP_047288652.1:p.Cys18Trp, XP_047288653.1:p.Cys18Trp, NP_001229848.1:p.Cys18Trp, XP_047288650.1:p.Cys18Trp

                        12.

                        rs1451664249 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          15:80122717 (GRCh38)
                          15:80415059 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:80122716:C:T
                          Gene:
                          ZFAND6 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000015.10:g.80122717C>T, NC_000015.9:g.80415059C>T, NM_019006.4:c.281C>T, NM_019006.3:c.281C>T, XM_011521684.3:c.281C>T, XM_011521684.2:c.281C>T, XM_011521684.1:c.281C>T, NM_001242914.2:c.281C>T, NM_001242914.1:c.281C>T, NM_001242913.2:c.281C>T, NM_001242913.1:c.281C>T, XM_024449959.2:c.281C>T, XM_024449959.1:c.281C>T, NM_001242916.2:c.281C>T, NM_001242916.1:c.281C>T, NM_001242912.2:c.281C>T, NM_001242912.1:c.281C>T, XM_024449956.2:c.281C>T, XM_024449956.1:c.281C>T, NM_001242917.2:c.245C>T, NM_001242917.1:c.245C>T, NM_001242911.2:c.281C>T, NM_001242911.1:c.281C>T, NM_001242915.2:c.281C>T, NM_001242915.1:c.281C>T, XM_024449963.2:c.281C>T, XM_024449963.1:c.281C>T, NM_001242918.2:c.281C>T, NM_001242918.1:c.281C>T, XM_047432695.1:c.281C>T, XM_047432696.1:c.281C>T, XM_047432697.1:c.281C>T, XM_047432694.1:c.281C>T, NP_061879.2:p.Ser94Leu, XP_011519986.1:p.Ser94Leu, NP_001229843.1:p.Ser94Leu, NP_001229842.1:p.Ser94Leu, XP_024305727.1:p.Ser94Leu, NP_001229845.1:p.Ser94Leu, NP_001229841.1:p.Ser94Leu, XP_024305724.1:p.Ser94Leu, NP_001229846.1:p.Ser82Leu, NP_001229840.1:p.Ser94Leu, NP_001229844.1:p.Ser94Leu, XP_024305731.1:p.Ser94Leu, NP_001229847.1:p.Ser94Leu, XP_047288651.1:p.Ser94Leu, XP_047288652.1:p.Ser94Leu, XP_047288653.1:p.Ser94Leu, XP_047288650.1:p.Ser94Leu

                          13.

                          rs1450131121 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            15:80122741 (GRCh38)
                            15:80415083 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:80122740:C:G,NC_000015.10:80122740:C:T
                            Gene:
                            ZFAND6 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000015.10:g.80122741C>G, NC_000015.10:g.80122741C>T, NC_000015.9:g.80415083C>G, NC_000015.9:g.80415083C>T, NM_019006.4:c.305C>G, NM_019006.4:c.305C>T, NM_019006.3:c.305C>G, NM_019006.3:c.305C>T, XM_011521684.3:c.305C>G, XM_011521684.3:c.305C>T, XM_011521684.2:c.305C>G, XM_011521684.2:c.305C>T, XM_011521684.1:c.305C>G, XM_011521684.1:c.305C>T, NM_001242914.2:c.305C>G, NM_001242914.2:c.305C>T, NM_001242914.1:c.305C>G, NM_001242914.1:c.305C>T, NM_001242913.2:c.305C>G, NM_001242913.2:c.305C>T, NM_001242913.1:c.305C>G, NM_001242913.1:c.305C>T, XM_024449959.2:c.305C>G, XM_024449959.2:c.305C>T, XM_024449959.1:c.305C>G, XM_024449959.1:c.305C>T, NM_001242916.2:c.305C>G, NM_001242916.2:c.305C>T, NM_001242916.1:c.305C>G, NM_001242916.1:c.305C>T, NM_001242912.2:c.305C>G, NM_001242912.2:c.305C>T, NM_001242912.1:c.305C>G, NM_001242912.1:c.305C>T, XM_024449956.2:c.305C>G, XM_024449956.2:c.305C>T, XM_024449956.1:c.305C>G, XM_024449956.1:c.305C>T, NM_001242917.2:c.269C>G, NM_001242917.2:c.269C>T, NM_001242917.1:c.269C>G, NM_001242917.1:c.269C>T, NM_001242911.2:c.305C>G, NM_001242911.2:c.305C>T, NM_001242911.1:c.305C>G, NM_001242911.1:c.305C>T, NM_001242915.2:c.305C>G, NM_001242915.2:c.305C>T, NM_001242915.1:c.305C>G, NM_001242915.1:c.305C>T, XM_024449963.2:c.305C>G, XM_024449963.2:c.305C>T, XM_024449963.1:c.305C>G, XM_024449963.1:c.305C>T, NM_001242918.2:c.305C>G, NM_001242918.2:c.305C>T, NM_001242918.1:c.305C>G, NM_001242918.1:c.305C>T, XM_047432695.1:c.305C>G, XM_047432695.1:c.305C>T, XM_047432696.1:c.305C>G, XM_047432696.1:c.305C>T, XM_047432697.1:c.305C>G, XM_047432697.1:c.305C>T, XM_047432694.1:c.305C>G, XM_047432694.1:c.305C>T, NP_061879.2:p.Ser102Cys, NP_061879.2:p.Ser102Phe, XP_011519986.1:p.Ser102Cys, XP_011519986.1:p.Ser102Phe, NP_001229843.1:p.Ser102Cys, NP_001229843.1:p.Ser102Phe, NP_001229842.1:p.Ser102Cys, NP_001229842.1:p.Ser102Phe, XP_024305727.1:p.Ser102Cys, XP_024305727.1:p.Ser102Phe, NP_001229845.1:p.Ser102Cys, NP_001229845.1:p.Ser102Phe, NP_001229841.1:p.Ser102Cys, NP_001229841.1:p.Ser102Phe, XP_024305724.1:p.Ser102Cys, XP_024305724.1:p.Ser102Phe, NP_001229846.1:p.Ser90Cys, NP_001229846.1:p.Ser90Phe, NP_001229840.1:p.Ser102Cys, NP_001229840.1:p.Ser102Phe, NP_001229844.1:p.Ser102Cys, NP_001229844.1:p.Ser102Phe, XP_024305731.1:p.Ser102Cys, XP_024305731.1:p.Ser102Phe, NP_001229847.1:p.Ser102Cys, NP_001229847.1:p.Ser102Phe, XP_047288651.1:p.Ser102Cys, XP_047288651.1:p.Ser102Phe, XP_047288652.1:p.Ser102Cys, XP_047288652.1:p.Ser102Phe, XP_047288653.1:p.Ser102Cys, XP_047288653.1:p.Ser102Phe, XP_047288650.1:p.Ser102Cys, XP_047288650.1:p.Ser102Phe

                            14.

                            rs1441938908 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AGC>- [Show Flanks]
                              Chromosome:
                              15:80131204 (GRCh38)
                              15:80423546 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:80131199:CAGCAGC:CAGC
                              Gene:
                              ZFAND6 (Varview)
                              Functional Consequence:
                              inframe_deletion,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CAGC=0.000224/1 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000223/1 (Estonian)
                              HGVS:
                              NC_000015.10:g.80131201AGC[1], NC_000015.9:g.80423543AGC[1], NM_019006.4:c.386AGC[1], NM_019006.3:c.386AGC[1], XM_011521684.3:c.386AGC[1], XM_011521684.2:c.386AGC[1], XM_011521684.1:c.386AGC[1], NM_001242914.2:c.386AGC[1], NM_001242914.1:c.386AGC[1], NM_001242913.2:c.386AGC[1], NM_001242913.1:c.386AGC[1], XM_024449959.2:c.386AGC[1], XM_024449959.1:c.386AGC[1], NM_001242916.2:c.386AGC[1], NM_001242916.1:c.386AGC[1], NM_001242912.2:c.386AGC[1], NM_001242912.1:c.386AGC[1], XM_024449956.2:c.386AGC[1], XM_024449956.1:c.386AGC[1], NM_001242917.2:c.350AGC[1], NM_001242917.1:c.350AGC[1], NM_001242911.2:c.386AGC[1], NM_001242911.1:c.386AGC[1], NM_001242915.2:c.386AGC[1], NM_001242915.1:c.386AGC[1], XM_024449963.2:c.386AGC[1], XM_024449963.1:c.386AGC[1], XM_047432695.1:c.386AGC[1], XM_047432696.1:c.386AGC[1], XM_047432697.1:c.386AGC[1], NM_001242919.1:c.305AGC[1], XM_047432694.1:c.386AGC[1], NP_061879.2:p.Gln130del, XP_011519986.1:p.Gln130del, NP_001229843.1:p.Gln130del, NP_001229842.1:p.Gln130del, XP_024305727.1:p.Gln130del, NP_001229845.1:p.Gln130del, NP_001229841.1:p.Gln130del, XP_024305724.1:p.Gln130del, NP_001229846.1:p.Gln118del, NP_001229840.1:p.Gln130del, NP_001229844.1:p.Gln130del, XP_024305731.1:p.Gln130del, XP_047288651.1:p.Gln130del, XP_047288652.1:p.Gln130del, XP_047288653.1:p.Gln130del, NP_001229848.1:p.Gln103del, XP_047288650.1:p.Gln130del

                              15.

                              rs1440713078 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                15:80120381 (GRCh38)
                                15:80412723 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:80120380:C:A
                                Gene:
                                ZFAND6 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000015.10:g.80120381C>A, NC_000015.9:g.80412723C>A, NM_019006.4:c.37C>A, NM_019006.3:c.37C>A, XM_011521684.3:c.37C>A, XM_011521684.2:c.37C>A, XM_011521684.1:c.37C>A, NM_001242914.2:c.37C>A, NM_001242914.1:c.37C>A, NM_001242913.2:c.37C>A, NM_001242913.1:c.37C>A, XM_024449959.2:c.37C>A, XM_024449959.1:c.37C>A, NM_001242916.2:c.37C>A, NM_001242916.1:c.37C>A, NM_001242912.2:c.37C>A, NM_001242912.1:c.37C>A, XM_024449956.2:c.37C>A, XM_024449956.1:c.37C>A, NM_001242917.2:c.37C>A, NM_001242917.1:c.37C>A, NM_001242911.2:c.37C>A, NM_001242911.1:c.37C>A, NM_001242915.2:c.37C>A, NM_001242915.1:c.37C>A, XM_024449963.2:c.37C>A, XM_024449963.1:c.37C>A, NM_001242918.2:c.37C>A, NM_001242918.1:c.37C>A, XM_047432695.1:c.37C>A, XM_047432696.1:c.37C>A, XM_047432697.1:c.37C>A, NM_001242919.1:c.37C>A, XM_047432694.1:c.37C>A, NP_061879.2:p.Leu13Ile, XP_011519986.1:p.Leu13Ile, NP_001229843.1:p.Leu13Ile, NP_001229842.1:p.Leu13Ile, XP_024305727.1:p.Leu13Ile, NP_001229845.1:p.Leu13Ile, NP_001229841.1:p.Leu13Ile, XP_024305724.1:p.Leu13Ile, NP_001229846.1:p.Leu13Ile, NP_001229840.1:p.Leu13Ile, NP_001229844.1:p.Leu13Ile, XP_024305731.1:p.Leu13Ile, NP_001229847.1:p.Leu13Ile, XP_047288651.1:p.Leu13Ile, XP_047288652.1:p.Leu13Ile, XP_047288653.1:p.Leu13Ile, NP_001229848.1:p.Leu13Ile, XP_047288650.1:p.Leu13Ile

                                16.

                                rs1431236540 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:80131271 (GRCh38)
                                  15:80423613 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:80131270:C:T
                                  Gene:
                                  ZFAND6 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,intron_variant,coding_sequence_variant
                                  HGVS:

                                  17.

                                  rs1428062111 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    15:80121819 (GRCh38)
                                    15:80414161 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:80121818:A:G
                                    Gene:
                                    ZFAND6 (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000047/2 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000015.10:g.80121819A>G, NC_000015.9:g.80414161A>G, NM_019006.4:c.262A>G, NM_019006.3:c.262A>G, XM_011521684.3:c.262A>G, XM_011521684.2:c.262A>G, XM_011521684.1:c.262A>G, NM_001242914.2:c.262A>G, NM_001242914.1:c.262A>G, NM_001242913.2:c.262A>G, NM_001242913.1:c.262A>G, XM_024449959.2:c.262A>G, XM_024449959.1:c.262A>G, NM_001242916.2:c.262A>G, NM_001242916.1:c.262A>G, NM_001242912.2:c.262A>G, NM_001242912.1:c.262A>G, XM_024449956.2:c.262A>G, XM_024449956.1:c.262A>G, NM_001242917.2:c.226A>G, NM_001242917.1:c.226A>G, NM_001242911.2:c.262A>G, NM_001242911.1:c.262A>G, NM_001242915.2:c.262A>G, NM_001242915.1:c.262A>G, XM_024449963.2:c.262A>G, XM_024449963.1:c.262A>G, NM_001242918.2:c.262A>G, NM_001242918.1:c.262A>G, XM_047432695.1:c.262A>G, XM_047432696.1:c.262A>G, XM_047432697.1:c.262A>G, XM_047432694.1:c.262A>G, NP_061879.2:p.Ser88Gly, XP_011519986.1:p.Ser88Gly, NP_001229843.1:p.Ser88Gly, NP_001229842.1:p.Ser88Gly, XP_024305727.1:p.Ser88Gly, NP_001229845.1:p.Ser88Gly, NP_001229841.1:p.Ser88Gly, XP_024305724.1:p.Ser88Gly, NP_001229846.1:p.Ser76Gly, NP_001229840.1:p.Ser88Gly, NP_001229844.1:p.Ser88Gly, XP_024305731.1:p.Ser88Gly, NP_001229847.1:p.Ser88Gly, XP_047288651.1:p.Ser88Gly, XP_047288652.1:p.Ser88Gly, XP_047288653.1:p.Ser88Gly, XP_047288650.1:p.Ser88Gly

                                    18.

                                    rs1426073821 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      15:80122722 (GRCh38)
                                      15:80415064 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:80122721:T:C
                                      Gene:
                                      ZFAND6 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.00004/1 (ALFA)
                                      HGVS:
                                      NC_000015.10:g.80122722T>C, NC_000015.9:g.80415064T>C, NM_019006.4:c.286T>C, NM_019006.3:c.286T>C, XM_011521684.3:c.286T>C, XM_011521684.2:c.286T>C, XM_011521684.1:c.286T>C, NM_001242914.2:c.286T>C, NM_001242914.1:c.286T>C, NM_001242913.2:c.286T>C, NM_001242913.1:c.286T>C, XM_024449959.2:c.286T>C, XM_024449959.1:c.286T>C, NM_001242916.2:c.286T>C, NM_001242916.1:c.286T>C, NM_001242912.2:c.286T>C, NM_001242912.1:c.286T>C, XM_024449956.2:c.286T>C, XM_024449956.1:c.286T>C, NM_001242917.2:c.250T>C, NM_001242917.1:c.250T>C, NM_001242911.2:c.286T>C, NM_001242911.1:c.286T>C, NM_001242915.2:c.286T>C, NM_001242915.1:c.286T>C, XM_024449963.2:c.286T>C, XM_024449963.1:c.286T>C, NM_001242918.2:c.286T>C, NM_001242918.1:c.286T>C, XM_047432695.1:c.286T>C, XM_047432696.1:c.286T>C, XM_047432697.1:c.286T>C, XM_047432694.1:c.286T>C

                                      19.

                                      rs1425478239 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        15:80121729 (GRCh38)
                                        15:80414071 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:80121728:C:A
                                        Gene:
                                        ZFAND6 (Varview)
                                        Functional Consequence:
                                        missense_variant,intron_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000008/2 (GnomAD_exomes)
                                        A=0.000014/2 (GnomAD)
                                        A=0.00003/8 (TOPMED)
                                        HGVS:
                                        NC_000015.10:g.80121729C>A, NC_000015.9:g.80414071C>A, NM_019006.4:c.172C>A, NM_019006.3:c.172C>A, XM_011521684.3:c.172C>A, XM_011521684.2:c.172C>A, XM_011521684.1:c.172C>A, NM_001242914.2:c.172C>A, NM_001242914.1:c.172C>A, NM_001242913.2:c.172C>A, NM_001242913.1:c.172C>A, XM_024449959.2:c.172C>A, XM_024449959.1:c.172C>A, NM_001242916.2:c.172C>A, NM_001242916.1:c.172C>A, NM_001242912.2:c.172C>A, NM_001242912.1:c.172C>A, XM_024449956.2:c.172C>A, XM_024449956.1:c.172C>A, NM_001242911.2:c.172C>A, NM_001242911.1:c.172C>A, NM_001242915.2:c.172C>A, NM_001242915.1:c.172C>A, XM_024449963.2:c.172C>A, XM_024449963.1:c.172C>A, NM_001242918.2:c.172C>A, NM_001242918.1:c.172C>A, XM_047432695.1:c.172C>A, XM_047432696.1:c.172C>A, XM_047432697.1:c.172C>A, NM_001242919.1:c.172C>A, XM_047432694.1:c.172C>A, NP_061879.2:p.Leu58Met, XP_011519986.1:p.Leu58Met, NP_001229843.1:p.Leu58Met, NP_001229842.1:p.Leu58Met, XP_024305727.1:p.Leu58Met, NP_001229845.1:p.Leu58Met, NP_001229841.1:p.Leu58Met, XP_024305724.1:p.Leu58Met, NP_001229840.1:p.Leu58Met, NP_001229844.1:p.Leu58Met, XP_024305731.1:p.Leu58Met, NP_001229847.1:p.Leu58Met, XP_047288651.1:p.Leu58Met, XP_047288652.1:p.Leu58Met, XP_047288653.1:p.Leu58Met, NP_001229848.1:p.Leu58Met, XP_047288650.1:p.Leu58Met

                                        20.

                                        rs1418534584 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          15:80121725 (GRCh38)
                                          15:80414067 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:80121724:T:A
                                          Gene:
                                          ZFAND6 (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.80121725T>A, NC_000015.9:g.80414067T>A, NM_019006.4:c.168T>A, NM_019006.3:c.168T>A, XM_011521684.3:c.168T>A, XM_011521684.2:c.168T>A, XM_011521684.1:c.168T>A, NM_001242914.2:c.168T>A, NM_001242914.1:c.168T>A, NM_001242913.2:c.168T>A, NM_001242913.1:c.168T>A, XM_024449959.2:c.168T>A, XM_024449959.1:c.168T>A, NM_001242916.2:c.168T>A, NM_001242916.1:c.168T>A, NM_001242912.2:c.168T>A, NM_001242912.1:c.168T>A, XM_024449956.2:c.168T>A, XM_024449956.1:c.168T>A, NM_001242911.2:c.168T>A, NM_001242911.1:c.168T>A, NM_001242915.2:c.168T>A, NM_001242915.1:c.168T>A, XM_024449963.2:c.168T>A, XM_024449963.1:c.168T>A, NM_001242918.2:c.168T>A, NM_001242918.1:c.168T>A, XM_047432695.1:c.168T>A, XM_047432696.1:c.168T>A, XM_047432697.1:c.168T>A, NM_001242919.1:c.168T>A, XM_047432694.1:c.168T>A, NP_061879.2:p.Ser56Arg, XP_011519986.1:p.Ser56Arg, NP_001229843.1:p.Ser56Arg, NP_001229842.1:p.Ser56Arg, XP_024305727.1:p.Ser56Arg, NP_001229845.1:p.Ser56Arg, NP_001229841.1:p.Ser56Arg, XP_024305724.1:p.Ser56Arg, NP_001229840.1:p.Ser56Arg, NP_001229844.1:p.Ser56Arg, XP_024305731.1:p.Ser56Arg, NP_001229847.1:p.Ser56Arg, XP_047288651.1:p.Ser56Arg, XP_047288652.1:p.Ser56Arg, XP_047288653.1:p.Ser56Arg, NP_001229848.1:p.Ser56Arg, XP_047288650.1:p.Ser56Arg

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